HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110581983T>C , CM000672.2:g.110581983T>C | GRCh38 |
NC_000010.10:g.112341741T>C , CM000672.1:g.112341741T>C | GRCh37 |
NC_000010.9:g.112331731T>C | NCBI36 |
NG_012217.1:g.19293T>C , LRG_774:g.19293T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.741T>C | ||
ENST00000687823.1:n.522T>C | ||
ENST00000689932.1:n.2671T>C | ||
ENST00000691297.1:n.741T>C | ||
ENST00000691527.1:n.1411T>C | ||
ENST00000692792.1:n.727T>C | ||
ENST00000361804.5:c.608T>C MANE Select | ENSP00000354720.5:p.Leu203Pro | |
ENST00000361804.4:c.608T>C | ENSP00000354720.4:p.Leu203Pro | |
ENST00000462899.1:n.754T>C | ||
NM_005445.3:c.608T>C , LRG_774t1:c.608T>C | NP_005436.1:p.Leu203Pro | |
NM_005445.4:c.608T>C MANE Select | NP_005436.1:p.Leu203Pro |